Canonical Allele Identifier: CA1190729351
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1648041286
gnomAD v4: 1-115738448-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738448A>G , CM000663.2:g.115738448A>G GRCh38
NC_000001.10:g.116281069A>G , CM000663.1:g.116281069A>G GRCh37
NC_000001.9:g.116082592A>G NCBI36
NG_008802.1:g.35358T>C , LRG_404:g.35358T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-113T>C ENSP00000518226.1:n.145-113T>C
ENST00000261448.6:c.421-113T>C MANE Select ENSP00000261448.5:n.421-113T>C
ENST00000261448.5:c.421-113T>C ENSP00000261448.5:n.421-113T>C
NM_001232.3:c.421-113T>C , LRG_404t1:c.421-113T>C NP_001223.2:n.421-113T>C
NM_001232.4:c.421-113T>C MANE Select NP_001223.2:n.421-113T>C
Search 100 bp 5'
Search 100 bp 3'